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C-Banding and Agnor-Staining Were Still Zhu et al. Molecular Cytogenetics (2019) 12:41 https://doi.org/10.1186/s13039-019-0453-1 RESEARCH Open Access C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis Jian Jiang Zhu , Hong Qi* , Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao and Shao Qin Zhang Abstract Background: In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conventional cytogenetic and specific staining methods still play an important role in the work-up of chromosome anomaly. This study investigated the application of C-banding and AgNOR-staining techniques in prenatal diagnosis of chromosomal heteromorphisms and some structure abnormalities. Results: Among the 2970 samples, the incidence of chromosomal heteromorphisms was 8.79% (261/2970). The most frequent was found to be chromosome Y (2.93%, 87/2970), followed by chromosome 1 (1.65 %, 49/2970), 9 (1.52 %, 45/2970), 22 (0.77 %, 23/2970) and 15 (0.64 %, 19/2970). We compared the incidence of chromosomal heteromorphisms between recurrent spontaneous abortion (RSA) group and control group. The frequency of autosomal hetermorphisms in RSA group was 7.63% higher than that in control group (5.78%), while the frequency of Y chromosomal heteromorphisms was 4.76% lower than that in control group (5.71%). Here we summarized 4 representative cases, inv (1) (p12q24), psu dic (4;17) (p16.3;p13.3), r(X)(p11; q21) and an isodicentric bisatellited chromosome to illustrate the application of C-banding or AgNOR-staining, CMA or NGS was performed to detect CNVs if necessary. Conclusions: This study indicated that C-banding and AgNOR-staining were still effective complementary methods to identify chromosomal heteromorphisms and marker chromosomes or some structural rearrangements involving the centromere or acrocentric chromosomes. Our results suggested that there was no evidence for an association between chromosomal heteromorphisms and infertility or recurrent spontaneous abortions. Undoubtedly, sometimes we needed to combine the results of CMA or CNV-seq to comprehensively reflect the structure and aberration of chromosome segments. Thus, accurate karyotype reports and genetic counseling could be provided. Keywords: Prenatal diagnosis, C-banding, AgNOR-staining, Chromosomal heteromorphisms, Chromosomal structural abnormality, Recurrent spontaneous abortion * Correspondence: [email protected] Prenatal Diagnosis Center, Beijing Haidian Maternal and Child Health Hospital, Beijing 100080, People’s Republic of China © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Zhu et al. Molecular Cytogenetics (2019) 12:41 Page 2 of 11 Introduction based on the indications of high-risk including advanced Currently, chromosomal microarray analysis (CMA) and maternal age, positive aneuploidy screening results, or copy number variation sequencing (CNV-Seq) are widely ultrasound structural anomalies in the Beijing Haidian used in prenatal diagnosis due to the capability of identi- Maternal and Child Health Hospital. The pregnant fying microdeletion and microduplication syndromes as women’s obstetrical history was detail recorded, 2970 suc- well as de novo pathogenic CNVs which may be missed by cessful diagnostic samples were divided into two groups: conventional karyotyping [1]. However, their drawbacks the RSA group (history of spontaneous abortions≥2, are also obvious including the incompetence of balanced Group A) and the control group (history of spontaneous translocations, triploidies, inversion and heteromorphisms abortions≤1, Group B). Samples with chromosomal het- identification. So far, most of the clinical experts do not eromorphisms, structural abnormalities involving the support the replacement of conventional karyotyping by centromere regions or acrocentric chromosomes, as well CMA as a first-tier clinical test or in pregnancies at low as mark chromosomes were verified by C-banding and risk for chromosome anomalies [2, 3] mainly due to the AgNOR-staining techniques at first. Then CMA or NGS detection of variant of unknown significance (VOUS) and was also used to exclude chromosome CNVs if necessary. economic reasons. Therefore, the karyotype analysis All clinical tests were based on written informed consent technology is still essential for chromosomal disorder of pregnant women. diagnosis. After different treatments such as denaturation and/or Cell culture and karyotype analysis enzymatic digestion, chromosomes show light and dark Fetal cells obtained from villus, amniotic fluid or cord bands under light microscopy in different regions. blood were cultured with double-line using standard Chromosome banding techniques are generally divided methodologies. Chromosomes in metaphases were into two types: (1) bands are distributed along the entire prepared from the cultured cell or lymphocytes using chromosome, e.g. the most frequently used Giemsa-tryp- Giemsa-trypsin banding techniques. At least twenty sin banding (G-banding), Q banding and R banding; (2) metaphases chromosomes were counted and three meta- bands are located in specific chromosomal regions, phases chromosomes were analyzed in each line by two including C-banding (constitutive heterochromatin), Ag- independent laboratory technicians to avoid uncertainty NOR staining (nucleolar organizer region) and T-banding and variable results. (telomere). Each chromosome has a unique band pattern Chromosomal heteromorphisms were described follow- that can be reliably identified according to the corre- ing the criteria in the International System for Chromo- sponding banding technique. However, a dark-stained some Nomenclature [10]. 1/9/16qh+ is defined as being at band by a particular treatment may appear light-stained in least twice the length of the corresponding region on the another. G-banding is the most frequently used method in homologous chromosome, qh- is defined as being half the clinical laboratories because of its stability and cost- length of the normal corresponding region. Polymor- effectiveness. phisms of the Y chromosome were evaluated as such that C-banding and AgNOR-staining as the main banding Yqh+ (>size of chromosome 18), and Yqh- (<size of techniques for chromosomal heteromorphisms detection chromosome 21). For D/G –group chromosomes, the in- are not conventional used in many laboratories due to crease/decrease of the centromere or short arm in length the chromosomal heteromorphisms are generally con- were designated as cenh+/- if the variants were also C- sidered to have no pathological significance and could banding positive. Additionally, distinct variants in size or be stably inherited to the offspring. Surprisingly, there number of satellites (ps+, pss) and lengths of stalks (pstk+) have been increased conflicting evidence as to the of the D/G –group were also recorded. The pericentric possible association between heteromorphisms and the inversion of chromosomes 9 and Y were also categorized recurrent abortions [4–6], infertility or reproductive out- as heteromorphisms [8]. comes following assisted reproductive technology [7–9]. This study summarized the application of C-banding and Ag-NOR staining techniques for the prenatal diag- C-banding nosis of fetal chromosome karyotype in our hospital, Conventional slide with metaphases chromosomes was and explored the relationship between heteromorphisms incubated in 5% (saturated) barium hydroxide for about and recurrent spontaneous abortion (RSA). 1min ~ 5min (alkali treatment time varies with temperature and slide age) in 60°C water bath. After Materials and methods washing with tap water, the slide was subsequently incu- Sample information bated in two times the standard saline concentration From May 2015 to April 2018, a total of 2972 cases ac- (2×SSC) at 60°C for 90 min and it was finally stained for cepted karyotype analysis by invasive prenatal diagnosis 15 minutes by the Giemsa dye. Zhu et al. Molecular Cytogenetics (2019) 12:41 Page 3 of 11 Table 1 Summary the number and frequency of all observed Chromosomal heteromorphisms Heteromorphisms Chromosome number types 1 9 16 19 13 14 15 21 22 Y Total (n; %) qh+ 44 15 10 1 - - - - - 32 102 (3.43%) qh- 5 2 0 0 - - - - - 49 56 (1.89%) ps+ - - - - 1 - 7 9 14 - 31 (1.04%) pss - - - - - 1 - 1 1 - 3 (0.1%) pstk+ - - - - 3 5 1 4 5 - 18 (0.61%) cenh+/- - - - - 0/1 1/0 11/0 0/1 3/0 - 17 (0.57%) inv- 28- ---- - - 6 34(1.14%) Total (n; %) 49 (1.65%) 45 (1.52%) 10 (0.34%) 1 (0.03%) 5 (0.17%) 7 (0.24%) 19 (0.64%) 15 (0.51%) 23 (0.77%) 87 (2.93%) 261 (8.79%) Ag-NOR staining CMA and CNV-seq The slide was covered with 4 layers of clean lens paper Affymetrix CytoScan 750K array platforms were used to (the size was slightly smaller than the slide) first. Then, detect copy number variants. Genomic DNA extraction it was
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